2014_02-_Ciliopathies.html





Journal of Pediatric Genetics


Journal of Pediatric Genetics


Issue 02 ·


Volume 03 ·


June 2014


DOI: 10.1055/s-005-29733


Ciliopathies



Guest Editorial


047


Mans, Dorus A.;

Arts, Heleen H.:


Medical genetics of ciliopathies



Review Article



065


Szymanska, Katarzyna;

Hartill, Verity L.;

Johnson, Colin A.:


Unraveling the genetics of Joubert and Meckel-Gruber syndromes



079


de Vries, Tamar I.;

van Haelst, Mieke M.:


Ciliary disturbances in syndromal and non-syndromal obesity




103


Srivastava, Shalabh;

Sayer, John A.:


Nephronophthisis



115


Paff, Tamara;

Daniels, Johannes M.A.;

Pals, Gerard;

Haarman, Eric G.:


Primary ciliary dyskinesia: From diagnosis to molecular mechanisms